Zobrazeno 1 - 10
of 35
pro vyhledávání: '"B. N. Chodirker"'
Autor:
Harminder Singh, B. N. Chodirker, Craig Harlos, Christina Kim, Rebekah Rittberg, Namita Sinha, Anirban Das, Uri Tabori, Heidi Rothenmund
Publikováno v:
Current Oncology
Current Oncology, Vol 28, Iss 74, Pp 757-766 (2021)
Current Oncology, Vol 28, Iss 74, Pp 757-766 (2021)
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive hereditary cancer syndrome due to biallelic germline mutation involving one of the four DNA mismatch repair genes. Here we present a case of a young female with CMMRD, ho
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 58:223-223
Autor:
Jo-Ann K. Brock, Frédérique Tihy, Dimitri J. Stavropoulos, B. N. Chodirker, Christine M. Armour, Mary Ann Thomas, Tanya N. Nelson, Jane A. Evans, Radha Chari, Shelley Dougan, William T. Gibson, Elena Kolomietz, Isabelle DeBie
Publikováno v:
Journal of Medical Genetics
BackgroundThe aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromos
Autor:
Julian P. Midgley, Kym M. Boycott, Albert E. Chudley, Cheryl R. Greenberg, Lisbeth Birk Møller, D. Ross McLeod, R. Brian Lowry, A. Micheil Innes, B. N. Chodirker, Jillian S. Parboosingh, Francois P. Bernier, Jackie Morris
Publikováno v:
American Journal of Medical Genetics Part A. :1088-1098
The Hutterian Bretheren is an isolated population living on the North American prairies, the current community exceeding 40,000 in number. Their unique genetic history has contributed to a founder effect, which is reflected in the Mendelian disorders
Autor:
William D. Foulkes, Spring Holter, Melyssa Aronson, H. Rothenmund, A. Volenik, B. N. Chodirker, Elizabeth Dicks, B. Candas, K. Serfas, Dawna Gilchrist, Zane Cohen, Jane Green, Harminder Singh, Michael O. Woods, Robert Gryfe
Publikováno v:
Current oncology (Toronto, Ont.). 20(5)
At a consensus meeting held in Montreal, October 28, 2011, a multidisciplinary group of Canadian experts in the fields of genetics, gastroenterology, surgery, oncology, pathology, and health care services participated in presentation and discussion s
Autor:
B. N. Chodirker, Albert E. Chudley, N Lwiwiski, T. Anderson, D. Riordan, D. Konkin, Aziz Mhanni, A. J. Dawson, Cheryl R. Greenberg, M. Tomiuk, P Bocangel, Sandra L. Marles, J Saltel‐Olson
Publikováno v:
Clinical Genetics. 75:498-500
Autor:
Elana Lopez-Rangel, Michael B. Petersen, Damina Balmer, Dieter Kotzot, Michael S. Wang, Wendy P. Robinson, B. N. Chodirker, Jolanda Gyftodimou, Robin Casey, Albert Schinzel
Publikováno v:
American Journal of Medical Genetics. 86:34-43
Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and pa
Autor:
L. E. Seargeant, B. N. Chodirker, J. A. De Nanassy, Sara J. Israels, John M. Maris, S. M. Phillips, E. G. Lemire, G. J. Williams, Rochelle Yanofsky
Publikováno v:
Journal of Pediatric Hematology/Oncology. 20:489-493
Purpose: To describe the clinical and biologic features of neuroblastoma (NB) in two siblings and their maternal second cousin. Patients and Methods: NB was diagnosed in the siblings at 2 1 / 2 (patient 2) and 5 (patient 3) years of age. NB was diagn
Publikováno v:
Prenatal Diagnosis. 14:1086-1089
This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median
Autor:
B. N. Chodirker, Gail Coghlan, Patrick G. Gallagher, Teresa Zelinski, Sara J. Israels, Donald S. Houston, Ryan Zarychanski, Brett L. Houston
Publikováno v:
Blood cells, moleculesdiseases. 47(4)
The hereditary stomatocytoses are a group of heterogeneous conditions associated with chronic red cell hemolysis for which the causative genetic mutations are not known. We investigated 137 members of a large Canadian kindred with phenotypic findings